Q9BVK2 (ALG8_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase
EC=2.4.1.265

Alternative name(s):
Asparagine-linked glycosylation protein 8 homolog
Dol-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichyl alpha-1,3-glucosyltransferase
Dolichyl-P-Glc:Glc1Man9GlcNAc2-PP-dolichyl glucosyltransferase

Gene names

Name:	ALG8
ORF Names:	HUSSY-02

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	526 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Adds the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. Transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Glc1Man9GlcNAc(2)-PP-Dol By similarity.
Catalytic activity	Dolichyl beta-D-glucosyl phosphate + D-Glc-alpha-(1->3)-D-Man-alpha-(1->2)-D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-[D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-(D-Man-alpha-(1->2)-D-Man-alpha-(1->6))-D-Man-alpha-(1->6)]-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol = D-Glc-alpha-(1->3)-D-Glc-alpha-(1->3)-D-Man-alpha-(1->2)-D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-[D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-(D-Man-alpha-(1->2)-D-Man-alpha-(1->6))-D-Man-alpha-(1->6)]-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol + dolichyl phosphate.
Pathway	Protein modification; protein glycosylation.
Subcellular location	Endoplasmic reticulum membrane; Multi-pass membrane protein By similarity.
Involvement in disease	Defects in ALG8 are the cause of congenital disorder of glycosylation type 1H (CDG1H) [MIM:608104]. CDGs are a family of severe inherited diseases caused by a defect in protein N-glycosylation. They are characterized by under-glycosylated serum proteins. These multisystem disorders present with a wide variety of clinical features, such as disorders of the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. Ref.4
Sequence similarities	Belongs to the ALG6/ALG8 glucosyltransferase family.
Sequence caution	The sequence CAA12176.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Cellular component	Endoplasmic reticulum Membrane
Coding sequence diversity	Polymorphism
Disease	Congenital disorder of glycosylation Disease mutation
Domain	Transmembrane Transmembrane helix
Molecular function	Glycosyltransferase Transferase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	dolichol-linked oligosaccharide biosynthetic process Traceable author statement. Source: Reactome post-translational protein modification Traceable author statement. Source: Reactome protein N-linked glycosylation via asparagine Traceable author statement. Source: Reactome
Cellular component	endoplasmic reticulum membrane Traceable author statement. Source: Reactome integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular function	alpha-1,3-mannosyltransferase activity Inferred from mutant phenotype Ref.3. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 526	526	Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase		PRO_0000174162
Regions
	Transmembrane	4 – 24	21	Helical; Potential
	Transmembrane	103 – 122	20	Helical; Potential
	Transmembrane	143 – 163	21	Helical; Potential
	Transmembrane	188 – 208	21	Helical; Potential
	Transmembrane	238 – 258	21	Helical; Potential
	Transmembrane	334 – 354	21	Helical; Potential
	Transmembrane	368 – 388	21	Helical; Potential
	Transmembrane	389 – 409	21	Helical; Potential
	Transmembrane	427 – 449	23	Helical; Potential
	Transmembrane	461 – 481	21	Helical; Potential
	Transmembrane	488 – 508	21	Helical; Potential
Natural variations
	Natural variant	47	1	T → P in CDG1H. Ref.4		VAR_023480
	Natural variant	222	1	N → S. Ref.1 Ref.4 Corresponds to variant rs665278 [ dbSNP | Ensembl ].		VAR_023481
	Natural variant	275	1	G → D in CDG1H. Ref.4		VAR_023482
	Natural variant	439	1	I → T. Corresponds to variant rs17825668 [ dbSNP | Ensembl ].		VAR_031596
Experimental info
	Sequence conflict	478	1	F → Y in CAA12176. Ref.1
	Sequence conflict	503	1	I → V in AAH01133. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Q9BVK2 [UniParc]. Last modified April 3, 2007. Version 2. Checksum: 71589A4EC09C3BE7	FASTA	526	60,088
	10 20 30 40 50 60 MAALTIATGT GNWFSALALG VTLLKCLLIP TYHSTDFEVH RNWLAITHSL PISQWYYEAT 70 80 90 100 110 120 SEWTLDYPPF FAWFEYILSH VAKYFDQEML NVHNLNYSSS RTLLFQRFSV IFMDVLFVYA 130 140 150 160 170 180 VRECCKCIDG KKVGKELTEK PKFILSVLLL WNFGLLIVDH IHFQYNGFLF GLMLLSIARL 190 200 210 220 230 240 FQKRHMEGAF LFAVLLHFKH IYLYVAPAYG VYLLRSYCFT ANKPDGSIRW KSFSFVRVIS 250 260 270 280 290 300 LGLVVFLVSA LSLGPFLALN QLPQVFSRLF PFKRGLCHAY WAPNFWALYN ALDKVLSVIG 310 320 330 340 350 360 LKLKFLDPNN IPKASMTSGL VQQFQHTVLP SVTPLATLIC TLIAILPSIF CLWFKPQGPR 370 380 390 400 410 420 GFLRCLTLCA LSSFMFGWHV HEKAILLAIL PMSLLSVGKA GDASIFLILT TTGHYSLFPL 430 440 450 460 470 480 LFTAPELPIK ILLMLLFTIY SISSLKTLFR KEKPLFNWME TFYLLGLGPL EVCCEFVFPF 490 500 510 520 TSWKVKYPFI PLLLTSVYCA VGITYAWFKL YVSVLIDSAI GKTKKQ

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Characterization of 16 novel human genes showing high similarity to yeast sequences." Stanchi F., Bertocco E., Toppo S., Dioguardi R., Simionati B., Cannata N., Zimbello R., Lanfranchi G., Valle G. Yeast 18:69-80(2001) [PubMed: 11124703] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT SER-222. Tissue: Melanocyte.
[2]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Skin.
[3]	"A deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation." Chantret I., Dancourt J., Dupre T., Delenda C., Bucher S., Vuillaumier-Barrot S., Ogier de Baulny H., Peletan C., Danos O., Seta N., Durand G., Oriol R., Codogno P., Moore S.E.H. J. Biol. Chem. 278:9962-9971(2003) [PubMed: 12480927] [Abstract] Cited for: INVOLVEMENT IN CONGENITAL DISORDER OF GLYCOSYLATION TYPE I.
[4]	"Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency)." Schollen E., Frank C.G., Keldermans L., Reyntjens R., Grubenmann C.E., Clayton P.T., Winchester B.G., Smeitink J., Wevers R.A., Aebi M., Hennet T., Matthijs G. J. Med. Genet. 41:550-556(2004) [PubMed: 15235028] [Abstract] Cited for: VARIANTS CDG1H PRO-47 AND ASP-275, VARIANT SER-222.

Web resources

GeneReviews

GGDB

GlycoGene database

Cross-references

Sequence databases
EMBL GenBank DDBJ	AJ224875 mRNA. Translation: CAA12176.1. Different initiation. BC001133 mRNA. Translation: AAH01133.1.
IPI	IPI00032370.
RefSeq	NP_076984.2. NM_024079.4.
UniGene	Hs.503368.
3D structure databases
ProteinModelPortal	Q9BVK2.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9BVK2. 2 interactions.
STRING	Q9BVK2.
Protein family/group databases
CAZy	GT57. Glycosyltransferase Family 57.
Polymorphism databases
DMDM	143811361.
Proteomic databases
PRIDE	Q9BVK2.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000299626; ENSP00000299626; ENSG00000159063.
GeneID	79053.
KEGG	hsa:79053.
NMPDR	fig|9606.3.peg.6356.
UCSC	uc001oza.1. human.
Organism-specific databases
CTD	79053.
GeneCards	GC11M077811.
HGNC	HGNC:23161. ALG8.
MIM	608103. gene. 608104. phenotype.
neXtProt	NX_Q9BVK2.
Orphanet	79325. CDG syndrome type Ih.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG04364.
GeneTree	ENSGT00550000074967.
HOGENOM	HBG560959.
HOVERGEN	HBG024332.
InParanoid	Q9BVK2.
OMA	HNLNYSS.
OrthoDB	EOG4XKV6N.
PhylomeDB	Q9BVK2.
Enzyme and pathway databases
Reactome	REACT_17015. Metabolism of proteins.
Gene expression databases
ArrayExpress	Q9BVK2.
Bgee	Q9BVK2.
CleanEx	HS_ALG8.
Genevestigator	Q9BVK2.
GermOnline	ENSG00000159063. Homo sapiens.
Family and domain databases
InterPro	IPR004856. Glyco_trans_ALG6/ALG8. [Graphical view]
KO	K03849.
PANTHER	PTHR12413. Alg6_Alg8. 1 hit.
Pfam	PF03155. Alg6_Alg8. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	67803.
SOURCE	Search...

Entry information

Entry name

ALG8_HUMAN

Accession

Primary (citable) accession number: Q9BVK2
Secondary accession number(s): O60860

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 27, 2002
Last sequence update:	April 3, 2007
Last modified:	January 25, 2012
This is version 101 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.